Canonical Allele Identifier: CA475382672

Gene: CABP2

Linked Data

• gnomAD v4: 11-67521062-G-T
• MyVariant Identifiers: chr11:g.67288533G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521062G>T , CM000673.2:g.67521062G>T	GRCh38
NC_000011.9:g.67288533G>T , CM000673.1:g.67288533G>T	GRCh37
NC_000011.8:g.67045109G>T	NCBI36
NG_032982.1:g.7367C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.342C>A MANE Select	ENSP00000294288.4:p.Pro114=
ENST00000545205.2:c.*127C>A	ENSP00000446180.1:n.*127C>A
ENST00000636477.1:c.294C>A	ENSP00000490746.1:p.Pro98=
ENST00000294288.4:c.342C>A	ENSP00000294288.4:p.Pro114=
ENST00000353903.9:c.171C>A	ENSP00000312037.4:p.Pro57=
ENST00000545205.1:c.*127C>A	ENSP00000446180.1:n.*127C>A
NM_016366.2:c.342C>A	NP_057450.2:p.Pro114=
XM_005274046.1:c.360C>A	XP_005274103.1:p.Pro120=
NM_001318496.1:c.360C>A	NP_001305425.1:p.Pro120=
NM_001318496.2:c.360C>A	NP_001305425.1:p.Pro120=
NM_016366.3:c.342C>A MANE Select	NP_057450.2:p.Pro114=